Case Report: A novel IRF2BP2 mutation in an IEI patient with recurrent infections and autoimmune disorders.

ABSTRACT:

Introduction

Inborn errors of immunity (IEI) are a heterogeneous group of disorders characterized by increased risk of infections, autoimmunity, autoinflammatory diseases, malignancy and allergy. Next-generation sequencing has revolutionized the identification of genetic background of these patients and assists in diagnosis and treatment. In this study, we identified a probable unique monogenic cause of IEI, and evaluated the immunological methods and pathogenic detections.

Methods

A family with a member with a clinical diagnosis of IEI was screened by whole genomic sequencing (WGS). Demographic data, clinical manifestations, medical history, physical examination, laboratory findings and imaging features of the patient were extracted from medical records. Comprehensive immun

SUBMITTER: Pan Y 

PROVIDER: S-EPMC10282741 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature